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Identifying the Genetic Mutation for Heart Disease in Maine Coon Cats

Hypertrophic cardiomyopathy (HCM) is the most common cardiac disease in cats. Affected cats develop heart problems when they are about 2 to 4 years old. HCM may eventually be fatal months to years after initial symptoms are seen; however, the age of onset and the clinical course of this disease are highly variable. Most likely there are several different genetic mutations that cause HCM in cats. Researchers will study HCM in Maine Coon cats. There are already two genetic tests for HCM in Maine Coons but these tests are fairly ineffective in predicting disease. Researchers will perform a genome-wide association study to identify new genetic risk factors for HCM in Maine Coons, using SNP chips, a type of DNA chip that contains single nucleotide polymorphisms (SNPs) or genetic footprints, to identify disease causing mutations in DNA. They will compare the genomes of 72 affected and 72 non-affected cats to identify consistent genetic differences between the two groups that will indicate the particular genome region where the mutation is located and thus facilitate its identification. Once a causative mutation for HCM is identified, a genetic test could be developed. This study has potential to reduce or even eliminate HCM from the Maine Coon population by a targeted breeding program.

Dr. Gerhard Wess, University of Munich